Results 161 to 170 of about 81,200 (264)

Classic nonketotic hyperglycinemia and symmetrical intrauterine growth retardation, diagnostic challenges, and fatal outcome: a case report and review of the literature. [PDF]

J Med Case Rep
Mashategan P, Ashkanipour R, Madani S.
europepmc   +1 more source

Shea Butter Application to the Umbilical Stump Resulting in Omphalitis and <i>Leclercia adecarboxylata</i> Bacteremia in a Neonate: A Case Report. [PDF]

Case Rep Infect Dis
Omotosho MB, Adefila WO, Yusuf AO, Osei I, Wutor BM, Keita ML, Minteh M, Barjo O, Wally M, Salaudeen R, Mackenzie G.   +10 more
europepmc   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Dextrocardia with situs solitus in a neonate: a rare case report from Syria. [PDF]

Ann Med Surg (Lond)
Shams Aldeen AA, Marta R, Tannous R, Abo Alaika T, Alibrahim M, Sleiay B, Anis Y, Sleiay M.   +7 more
europepmc   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Severe staphylococcal scalded skin syndrome. [PDF]

IDCases
Nakyeyune ML, Bongomin F.
europepmc   +1 more source

Neonatal screening [PDF]

Journal of Tropical Pediatrics, 2014
openaire   +2 more sources

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Pericardial Effusion and Cardiac Tamponade in Preterm Neonates After Umbilical Venous Catheter Insertion: Management of a Case Series Using a Point-of-Care Ultrasonography (POCUS)-Guided Clinical Protocol. [PDF]

Cureus
Gialamprinou D, Lithoxopoulou M, Drogouti E, Babacheva E, Tsakalidis C.   +4 more
europepmc   +1 more source